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22q13.3 deletion syndrome

MedGen UID:
339994
Concept ID:
C1853490
Disease or Syndrome
Synonyms: 22q13 deletion syndrome; 22q13.3 Deletion Syndrome; Chromosome 22q13.3 deletion syndrome; Monosomy 22q13; Phelan-McDermid syndrome; TELOMERIC 22q13 MONOSOMY SYNDROME
Modes of inheritance:
Sporadic
MedGen UID:
64410
Concept ID:
C0205422
Temporal Concept
SNOMED CT: Phelan-McDermid syndrome (699310000); 22q13.3 deletion syndrome (699310000); Monosomy 22q13 (699310000)
 
Gene: SHANK3
Cytogenetic location: 22q13.33
OMIM: 606232

Disease characteristics

Excerpted from the GeneReview: Phelan-McDermid Syndrome
Phelan-McDermid syndrome (22q13.3 deletion syndrome) is characterized by neonatal hypotonia, global developmental delay, absent to severely delayed speech, and normal to accelerated growth. Most individuals have moderate to profound intellectual disability. Other features include large fleshy hands, dysplastic toenails, and decreased perspiration that results in a tendency to overheat. Behavior characteristics include mouthing or chewing non-food items, decreased perception of pain, and autistic-like affect. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Katy Phelan  |  R Curtis Rogers   view full author information

Additional descriptions

From OMIM
Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see 209850), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).  http://www.omim.org/entry/606232
From GHR
22q13.3 deletion syndrome, which is also commonly known as Phelan-McDermid syndrome, is a disorder caused by the loss of a small piece of chromosome 22. The deletion occurs near the end of the chromosome at a location designated q13.3. The features of 22q13.3 deletion syndrome vary widely and involve many parts of the body. Characteristic signs and symptoms include developmental delay, moderate to profound intellectual disability, decreased muscle tone (hypotonia), and absent or delayed speech. Some people with this condition have autism or autistic-like behavior that affects communication and social interaction, such as poor eye contact, sensitivity to touch, and aggressive behaviors. They may also chew on non-food items such as clothing. Less frequently, people with this condition have seizures. Individuals with 22q13.3 deletion syndrome tend to have a decreased sensitivity to pain. Many also have a reduced ability to sweat, which can lead to a greater risk of overheating and dehydration. Some people with this condition have episodes of frequent vomiting and nausea (cyclic vomiting) and backflow of stomach acids into the esophagus (gastroesophageal reflux). People with 22q13.3 deletion syndrome typically have distinctive facial features, including a long, narrow head; prominent ears; a pointed chin; droopy eyelids (ptosis); and deep-set eyes. Other physical features seen with this condition include large and fleshy hands and/or feet, a fusion of the second and third toes (syndactyly), and small or abnormal toenails. Some affected individuals have rapid (accelerated) growth.  http://ghr.nlm.nih.gov/condition/22q133-deletion-syndrome

Clinical features

Polycystic kidney dysplasia
MedGen UID:
427793
Concept ID:
CN000111
Finding
The presence of multiple cysts in both kidneys.
Abnormality of the teeth
MedGen UID:
424982
Concept ID:
CN000160
Finding
Any abnormality of the `teeth` (FMA:12516).
High palate
MedGen UID:
504397
Concept ID:
CN000211
Finding
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Wide nasal bridge
MedGen UID:
504442
Concept ID:
CN000404
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Deeply set eye
MedGen UID:
504464
Concept ID:
CN000458
Finding
An `eye` (FMA:54448) that is more deeply recessed into the plane of the face than is typical.
Abnormality of the eyelashes
MedGen UID:
446361
Concept ID:
CN000467
Finding
An abnormality of the `eyelashes` (FMA:53669).
Thick eyebrow
MedGen UID:
500889
Concept ID:
CN000539
Finding
Increased density/number and/or increased diameter of eyebrow hairs.
Dental malocclusion
MedGen UID:
504556
Concept ID:
CN000647
Finding
Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)
Deeply set eye
MedGen UID:
504464
Concept ID:
CN000458
Finding
An `eye` (FMA:54448) that is more deeply recessed into the plane of the face than is typical.
Ptosis
MedGen UID:
504471
Concept ID:
CN000475
Finding
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Cortical visual impairment
MedGen UID:
501071
Concept ID:
CN117595
Finding
A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.
Hearing impairment
MedGen UID:
446352
Concept ID:
CN000341
Finding
A `decreased magnitude` (PATO:0002018) of the `sensory perception of sound` (GO:0007605).
Protruding ear
MedGen UID:
504438
Concept ID:
CN000384
Finding
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Behavioral abnormality
MedGen UID:
425007
Concept ID:
CN000665
Finding
An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
Autism
MedGen UID:
504569
Concept ID:
CN000674
Finding
Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
Aggressive behavior
MedGen UID:
504570
Concept ID:
CN000675
Finding
Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.
Delayed speech and language development
MedGen UID:
504583
Concept ID:
CN000706
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Global developmental delay
MedGen UID:
504774
Concept ID:
CN001157
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Motor delay
MedGen UID:
504779
Concept ID:
CN001164
Finding
A type of `Developmental delay` (HP:0001263) characterized by a delay in acquiring motor skills.
Ventriculomegaly
MedGen UID:
505112
Concept ID:
CN001919
Finding
An increase in size of the ventricular system of the brain.
Cerebral cortical atrophy
MedGen UID:
505113
Concept ID:
CN001920
Finding
Atrophy of the cortex of the cerebrum.
Broad-based gait
MedGen UID:
505120
Concept ID:
CN001936
Finding
An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.
Delayed CNS myelination
MedGen UID:
500919
Concept ID:
CN001984
Finding
`Delayed` (PATO:0000502) `myelination` (GO:0042552) in the central nervous system.
Intellectual disability, moderate
MedGen UID:
505205
Concept ID:
CN002126
Finding
Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
Bruxism
MedGen UID:
505591
Concept ID:
CN003399
Finding
Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep.
Aplasia/Hypoplasia of the corpus callosum
MedGen UID:
425895
Concept ID:
CN006451
Finding
Absence or underdevelopment of the `corpus callosum` (FMA:86464).
Arachnoid cyst
MedGen UID:
506519
Concept ID:
CN117593
Finding
An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.
Sacral dimple
MedGen UID:
98428
Concept ID:
C0426848
Finding
A sacral dimple, or pilonidal dimple, is a small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area.
Clinodactyly of the 5th finger
MedGen UID:
425227
Concept ID:
CN003724
Finding
Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger).
Accelerated skeletal maturation
MedGen UID:
428158
Concept ID:
CN004973
Finding
An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Gastroesophageal reflux
MedGen UID:
505057
Concept ID:
CN001828
Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Sacral dimple
MedGen UID:
98428
Concept ID:
C0426848
Finding
A sacral dimple, or pilonidal dimple, is a small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area.
Abnormality of the eyelashes
MedGen UID:
446361
Concept ID:
CN000467
Finding
An abnormality of the `eyelashes` (FMA:53669).
Thick eyebrow
MedGen UID:
500889
Concept ID:
CN000539
Finding
Increased density/number and/or increased diameter of eyebrow hairs.
Toenail dysplasia
MedGen UID:
452021
Concept ID:
CN117687
Finding
An abnormality of the development of the toenails.
Patent ductus arteriosus
MedGen UID:
504886
Concept ID:
CN001496
Finding
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Abnormality of immune system physiology
MedGen UID:
451258
Concept ID:
CN116711
Finding
A functional abnormality of the `immune system` (FMA:9825).
Muscular hypotonia
MedGen UID:
504768
Concept ID:
CN001147
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROG22q13.3 deletion syndrome

Professional guidelines

PubMed

Phelan K, Betancur C
Eur J Hum Genet 2011 Apr;19(4) Epub 2010 Dec 8 doi: 10.1038/ejhg.2010.193. [Epub ahead of print] PMID: 21150887Free PMC Article

Recent clinical studies

Etiology

Verhoeven WM, Egger JI, Cohen-Snuijf R, Kant SG, de Leeuw N
Am J Med Genet A 2013 Jan;161A(1):158-61. Epub 2012 Nov 19 doi: 10.1002/ajmg.a.35597. [Epub ahead of print] PMID: 23166010
Uchino S, Waga C
Brain Dev 2013 Feb;35(2):106-10. Epub 2012 Jun 29 doi: 10.1016/j.braindev.2012.05.013. [Epub ahead of print] PMID: 22749736
Jehee FS, Takamori JT, Medeiros PF, Pordeus AC, Latini FR, Bertola DR, Kim CA, Passos-Bueno MR
Eur J Med Genet 2011 Jul-Aug;54(4):e425-32. Epub 2011 Mar 30 doi: 10.1016/j.ejmg.2011.03.007. [Epub ahead of print] PMID: 21457803
Waga C, Okamoto N, Ondo Y, Fukumura-Kato R, Goto Y, Kohsaka S, Uchino S
Psychiatr Genet 2011 Aug;21(4):208-11. doi: 10.1097/YPG.0b013e328341e069. PMID: 21378602
Philippe A, Boddaert N, Vaivre-Douret L, Robel L, Danon-Boileau L, Malan V, de Blois MC, Heron D, Colleaux L, Golse B, Zilbovicius M, Munnich A
Pediatrics 2008 Aug;122(2):e376-82. Epub 2008 Jul 14 doi: 10.1542/peds.2007-2584. [Epub ahead of print] PMID: 18625665

Diagnosis

Aldinger KA, Kogan J, Kimonis V, Fernandez B, Horn D, Klopocki E, Chung B, Toutain A, Weksberg R, Millen KJ, Barkovich AJ, Dobyns WB
Am J Med Genet A 2013 Jan;161A(1):131-6. Epub 2012 Dec 7 doi: 10.1002/ajmg.a.35700. [Epub ahead of print] PMID: 23225497Free PMC Article
Verhoeven WM, Egger JI, Cohen-Snuijf R, Kant SG, de Leeuw N
Am J Med Genet A 2013 Jan;161A(1):158-61. Epub 2012 Nov 19 doi: 10.1002/ajmg.a.35597. [Epub ahead of print] PMID: 23166010
Jehee FS, Takamori JT, Medeiros PF, Pordeus AC, Latini FR, Bertola DR, Kim CA, Passos-Bueno MR
Eur J Med Genet 2011 Jul-Aug;54(4):e425-32. Epub 2011 Mar 30 doi: 10.1016/j.ejmg.2011.03.007. [Epub ahead of print] PMID: 21457803
Philippe A, Boddaert N, Vaivre-Douret L, Robel L, Danon-Boileau L, Malan V, de Blois MC, Heron D, Colleaux L, Golse B, Zilbovicius M, Munnich A
Pediatrics 2008 Aug;122(2):e376-82. Epub 2008 Jul 14 doi: 10.1542/peds.2007-2584. [Epub ahead of print] PMID: 18625665
Cusmano-Ozog K, Manning MA, Hoyme HE
Am J Med Genet C Semin Med Genet 2007 Nov 15;145C(4):393-8. doi: 10.1002/ajmg.c.30155. PMID: 17926345

Therapy

Verhoeven WM, Egger JI, Cohen-Snuijf R, Kant SG, de Leeuw N
Am J Med Genet A 2013 Jan;161A(1):158-61. Epub 2012 Nov 19 doi: 10.1002/ajmg.a.35597. [Epub ahead of print] PMID: 23166010
Pasini A, D'Agati E, Casarelli L, Curatolo P
Brain Dev 2010 May;32(5):425-7. Epub 2009 May 9 doi: 10.1016/j.braindev.2009.04.005. [Epub ahead of print] PMID: 19428206

Prognosis

Verhoeven WM, Egger JI, Cohen-Snuijf R, Kant SG, de Leeuw N
Am J Med Genet A 2013 Jan;161A(1):158-61. Epub 2012 Nov 19 doi: 10.1002/ajmg.a.35597. [Epub ahead of print] PMID: 23166010
Philippe A, Boddaert N, Vaivre-Douret L, Robel L, Danon-Boileau L, Malan V, de Blois MC, Heron D, Colleaux L, Golse B, Zilbovicius M, Munnich A
Pediatrics 2008 Aug;122(2):e376-82. Epub 2008 Jul 14 doi: 10.1542/peds.2007-2584. [Epub ahead of print] PMID: 18625665

Clinical prediction guides

Jehee FS, Takamori JT, Medeiros PF, Pordeus AC, Latini FR, Bertola DR, Kim CA, Passos-Bueno MR
Eur J Med Genet 2011 Jul-Aug;54(4):e425-32. Epub 2011 Mar 30 doi: 10.1016/j.ejmg.2011.03.007. [Epub ahead of print] PMID: 21457803
Pasini A, D'Agati E, Casarelli L, Curatolo P
Brain Dev 2010 May;32(5):425-7. Epub 2009 May 9 doi: 10.1016/j.braindev.2009.04.005. [Epub ahead of print] PMID: 19428206
Cusmano-Ozog K, Manning MA, Hoyme HE
Am J Med Genet C Semin Med Genet 2007 Nov 15;145C(4):393-8. doi: 10.1002/ajmg.c.30155. PMID: 17926345
Battini R, Battaglia A, Bertini V, Cioni G, Parrini B, Rapalini E, Simi P, Tinelli F, Valetto A
Am J Med Genet A 2004 Oct 1;130A(2):196-9. doi: 10.1002/ajmg.a.30276. PMID: 15372517

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